Variant report

Variant	rs8056505
Chromosome Location	chr16:31214898-31214899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr16:31212028-31214909	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31214724-31215193	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr16:31196143-31216629	A549	lung:	n/a	n/a
5	POLR2A	chr16:31195969-31215569	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:31208236-31214955	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31214880-31214930	SK-N-SH	brain:	n/a
2	chr16:31214880-31214930	NHBE	bronchial:	n/a
3	chr16:31214880-31214930	T-47D	breast:	n/a
4	chr16:31214880-31214930	PFSK-1	brain:	n/a
5	chr16:31214880-31214930	HIPEpiC	eye:	n/a
6	chr16:31214880-31214930	AG09309	skin:	n/a
7	chr16:31214880-31214930	HAEpiC	amniotic membrane:	n/a
8	chr16:31214880-31214930	GM12891	blood:	n/a
9	chr16:31214880-31214930	Hela-S3	cervix:	n/a
10	chr16:31214880-31214930	GM06990	blood:	n/a
11	chr16:31214880-31214930	AG04450	lung:	fetal
12	chr16:31214880-31214930	GM12892	blood:	n/a
13	chr16:31214880-31214930	HNPCEpiC	eye:	n/a
14	chr16:31214880-31214930	AoSMC	blood vessel:	n/a
15	chr16:31214880-31214930	HCT-116	colon:	n/a
16	chr16:31214880-31214930	GM19239	blood:	n/a
17	chr16:31214880-31214930	HRPEpiC	eye:	n/a
18	chr16:31214880-31214930	SK-N-MC	brain:	n/a
19	chr16:31214880-31214930	CMK	blood:	n/a
20	chr16:31214880-31214930	HCM	heart:	n/a
21	chr16:31214880-31214930	BJ	skin:	n/a
22	chr16:31214880-31214930	SK-N-SH_RA	brain:	n/a
23	chr16:31214880-31214930	ProgFib	skin:	n/a
24	chr16:31214880-31214930	HRCEpiC	kidney:	n/a
25	chr16:31214880-31214930	HMEC	breast:	n/a
26	chr16:31214880-31214930	HEEpiC	esophagus:	n/a
27	chr16:31214880-31214930	AG10803	skin:	n/a
28	chr16:31214880-31214930	NB4	blood:	n/a
29	chr16:31214880-31214930	H1-hESC	embryonic stem cell:	embryo
30	chr16:31214880-31214930	NT2-D1	testis:	n/a
31	chr16:31214880-31214930	HCPEpiC	choroid plexus:	n/a
32	chr16:31214880-31214930	SKMC	muscle:	n/a
33	chr16:31214880-31214930	NH-A	brain:	n/a
34	chr16:31214880-31214930	NHDF-neo	bronchial:	n/a
35	chr16:31214880-31214930	ECC-1	luminal epithelium:	n/a
36	chr16:31214880-31214930	GM12878	blood:	n/a
37	chr16:31214880-31214930	HEK293	kidney:	embryo
38	chr16:31214880-31214930	HPAEpiC	pulmonary alveolar:	n/a
39	chr16:31214880-31214930	PrEC	prostate:	n/a
40	chr16:31214880-31214930	U87	brain:	n/a
41	chr16:31214880-31214930	AG04449	skin:	fetal
42	chr16:31214880-31214930	AG09319	gingival:	n/a
43	chr16:31214880-31214930	HepG2	liver:	n/a
44	chr16:31214880-31214930	K562	blood:	n/a
45	chr16:31214880-31214930	A549	lung:	n/a
46	chr16:31214880-31214930	PANC-1	pancreas:	n/a
47	chr16:31214880-31214930	HRE	kidney:	n/a
48	chr16:31214880-31214930	HCF	heart:	n/a
49	chr16:31214880-31214930	MCF10A-Er-Src	breast:	n/a
50	chr16:31214880-31214930	LNCaP	prostate:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31214850..31217153-chr16:31224265..31226762,3	MCF-7	breast:

No data

Variant related genes	Relation type
PYCARD	TF binding region
PYCARD	CpG island
ENSG00000177238	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1052352	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11641624	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs11645526	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs11864632	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12926743	0.91[EUR][1000 genomes]
rs12929077	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12935054	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13333997	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13336592	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs17708638	0.87[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs2288005	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2735393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3764323	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764327	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs3815801	0.83[CEU][hapmap]
rs4496161	0.94[ASN][1000 genomes]
rs4889537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889538	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889633	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889640	0.96[CEU][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];0.84[TSI][hapmap]
rs57348955	0.88[ASN][1000 genomes]
rs7184910	0.91[ASN][1000 genomes]
rs7186832	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7187143	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7193943	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs741810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8048583	0.87[CEU][hapmap]
rs8057320	0.87[CEU][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs8056505	TUFM	cis	parietal	SCAN
rs8056505	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx
rs8056505	YPEL3	cis	parietal	SCAN
rs8056505	RABEP2	cis	cerebellum	SCAN
rs8056505	ITGAX	cis	lymphoblastoid	seeQTL
rs8056505	CD19	cis	cerebellum	SCAN
rs8056505	ITGAX	cis	multi-tissue	Pritchard
rs8056505	MYST1	cis	parietal	SCAN
rs8056505	QPRT	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31212400-31215000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr16:31213000-31215000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr16:31213200-31215000	Active TSS	Fetal Kidney	kidney
4	chr16:31213400-31215000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:31213600-31215000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr16:31214200-31215000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:31214200-31215200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr16:31214200-31215200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:31214200-31215400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr16:31214400-31215000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:31214400-31215000	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr16:31214400-31215000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr16:31214400-31215000	Weak transcription	Spleen	Spleen
14	chr16:31214400-31215200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr16:31214400-31215400	Enhancers	A549	lung
16	chr16:31214400-31218000	Weak transcription	K562	blood
17	chr16:31214600-31215000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr16:31214600-31215000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:31214600-31215000	Enhancers	HMEC	breast
20	chr16:31214600-31215000	Enhancers	NHEK	skin
21	chr16:31214600-31215000	Enhancers	NHLF	lung
22	chr16:31214600-31215200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:31214600-31215200	Enhancers	Fetal Lung	lung
24	chr16:31214600-31215200	Enhancers	Fetal Muscle Trunk	muscle
25	chr16:31214600-31215200	Enhancers	Placenta	Placenta
26	chr16:31214600-31215400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr16:31214600-31215400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:31214600-31215400	Enhancers	Esophagus	oesophagus
29	chr16:31214600-31215400	Enhancers	Fetal Muscle Leg	muscle
30	chr16:31214600-31216200	Enhancers	Primary B cells from peripheral blood	blood
31	chr16:31214600-31217800	Weak transcription	Pancreas	Pancrea
32	chr16:31214600-31218000	Weak transcription	Fetal Intestine Large	intestine
33	chr16:31214800-31215000	Enhancers	Primary T cells from cord blood	blood
34	chr16:31214800-31215000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr16:31214800-31215000	Active TSS	Colonic Mucosa	Colon
36	chr16:31214800-31215200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr16:31214800-31215200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr16:31214800-31215200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:31214800-31215200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:31214800-31215200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr16:31214800-31215200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr16:31214800-31215400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:31214800-31215400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:31214800-31215400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:31214800-31215400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr16:31214800-31215400	Enhancers	Hela-S3	cervix
47	chr16:31214800-31215400	Enhancers	NHDF-Ad	bronchial
48	chr16:31214800-31216200	Enhancers	GM12878-XiMat	blood
49	chr16:31214800-31216400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr16:31214800-31216400	Enhancers	Primary neutrophils fromperipheralblood	blood

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